It implied that the variants in KAT6B gene may present short statue or growth failure in phenotype. [frontiersin.org]

This change is not present in any of the available databases. [ncbi.nlm.nih.gov]

Evaluation and monitoring of cardiac malformation and/or renal function (if hydronephrosis or renal cysts are present) as needed. Genetic counseling: KAT6B disorders are inherited in an autosomal dominant manner. [pubmed.ncbi.nlm.nih.gov]

Previous studies have presented the roles of KAT6B in cancer development. It has been reported that microRNA-4513 enhances epithelial-mesenchymal transition and cell proliferation of gastric cancer by modulating KAT6B [8]. [hindawi.com]

Ueda et al. [2017] presented more patients with RASopathies and craniosynostosis. [karger.com]

• Short Stature

  The patient whom we followed up was characterized by a short stature associated with special clinical symptoms. [frontiersin.org]

  Other features observed were severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, short distal phalanges, lipoatrophy, and cutis laxa [Ehmke et al., 2017]. [karger.com]

  stature,601216 MASP1161.210.993MC syndrome 1257920 MED12116.50.980.95Lujan-Fryns syndrome,309520 MED12116.50.980.95Ohdo syndrome, X-linked,300895 MED12116.50.980.95Opitz-Kaveggia syndrome,305450 MEGF81340.990.98Carpenter syndrome 2614976 MEOX1105.40.980.94Klippel-Feil [qgenomics.com]

• Developmental Delay

  Revised Gesell Developmental Schedules were used to evaluate her developmental quotient (DQ), which showed developmental delays with average DQ as low as 52 scores. [frontiersin.org]

  Also, feeding and swallowing difficulties, developmental delay [Doherty et al., 2007], and epilepsy occur [Agochukwu et al., 2012b]. [karger.com]

  Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips [pubmed.ncbi.nlm.nih.gov]

• Weakness

  After birth, she presented weak crying and feeding difficulties. Her mother and father were respectively 26 and 27 years old when she was born. Their heights were 150 and 175 cm respectively. The girl was breast fed. [frontiersin.org]

  They had lower facial weakness, high-arched palate, sagittal and metopic synostosis, axial hypotonia, proximal muscle weakness, and mild scoliosis [Gonorazky et al., 2017]. [karger.com]

• Feeding Difficulties

  After birth, she presented weak crying and feeding difficulties. Her mother and father were respectively 26 and 27 years old when she was born. Their heights were 150 and 175 cm respectively. The girl was breast fed. [frontiersin.org]

  Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype. [pubmed.ncbi.nlm.nih.gov]

• Crying

  After birth, she presented weak crying and feeding difficulties. Her mother and father were respectively 26 and 27 years old when she was born. Their heights were 150 and 175 cm respectively. The girl was breast fed. [frontiersin.org]

• Cough

  She occasionally had some overflow but with no history of choking cough or frequent vomiting. She showed slower physical growth velocity than the other girls at the same age. [frontiersin.org]

• Regurgitation

  Cardiac ultrasonography confirmed atrial septal defect (0.36 cm diameter) with mild tricuspid valve regurgitation. Abdominal ultrasonography demonstrated the size of the left kidney as 4.6*2.5 cm, and the right kidney as 5.0*2.2 cm. [frontiersin.org]

• Choking

  She occasionally had some overflow but with no history of choking cough or frequent vomiting. She showed slower physical growth velocity than the other girls at the same age. [frontiersin.org]

• Normal Hearing

  Some patients have speech delay despite normal hearing (2). In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes. [frontiersin.org]

• Lacrimation

  Management: Treatment of manifestations: Medical problems associated with gastrointestinal, genitourinary, cardiac, palatal or dental anomalies; abnormal vision or lacrimal duct abnormality; hearing loss; or hypothyroidism associated with KAT6B disorders [pubmed.ncbi.nlm.nih.gov]

  Otofaciocervical syndrome,166780 EZH2153.30.990.98Weaver syndrome,277590 FAM83H83.20.950.89Amelogenesis imperfecta, type III,130900 FGD198.10.950.89Aarskog-Scott syndrome,305400 FGD198.10.950.89Mental retardation, X-linked syndromic 16305400 FGF10150.111Aplasia of lacrimal [qgenomics.com]

  In SBBYSS, blepharophimosis/ptosis, lacrimal duct anomalies, a bulbous nasal tip and mask-like face, extremity joint laxity, long thumbs/big toes are often observed (3). [frontiersin.org]

• Blepharoptosis

  Interestingly, a patient with a Noonan syndrome-like phenotype, who mainly presented with a feature of short stature, blepharoptosis, was found to have haploinsufficiency of the KAT6B gene, which resulted in 50% reduction in KAT6B expression in the patient [frontiersin.org]

  Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J. Med. Genet. 1986;23:242–244. [PMC free article] [PubMed] [Google Scholar] 3. [ncbi.nlm.nih.gov]

• Flexion Contracture

  Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips [pubmed.ncbi.nlm.nih.gov]

  However, GTPTS usually shows more severe clinical features, including agenesis of the corpus callosum with microcephaly, flexion contractures of the hips and knees, absent patellae, hydronephrosis, and/or multiple renal cysts (4, 5).The common phenotypes [frontiersin.org]

• Eruptions

  […] carcinoma, somatic,605462 PTCH1138.60.980.96Basal cell nevus syndrome,109400 PTCH1138.60.980.96Holoprosencephaly-7,610828 PTH1R115.50.990.99Chondrodysplasia, Blomstrand type,215045 PTH1R115.50.990.99Eiken syndrome,600002 PTH1R115.50.990.99Failure of tooth eruption [qgenomics.com]

  Teeth began to erupt at 9 months of age. Rolling over appeared at 11 months and crawling at 15 months. At 19 months old, she had 16 teeth. [frontiersin.org]

  (Met391Arg), and is characterized by low-set ears, hypertelorism, midface hypoplasia, micrognathia, prematurely erupted fetal teeth, and clitoromegaly [Merrill et al., 2012; Scott et al., 2014]. [karger.com]

• Broad Nasal Bridge

  (B,C) Narrow palpebral fissure, ptosis, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, great toes. (D) Stand up with assistance when she was 19 months. [frontiersin.org]

  Affected individuals show intellectual disability, a shared unique craniofacial phenotype (long palpebral fissures, ptosis, broad prominent nasal bridge, hypoplastic nasal bridge, hypoplastic alae nasi, open downturned mouth, cupid's bow, full lower lips [karger.com]

• Cryptorchidism

  Both phenotypes are characterized by significant global developmental delay/intellectual disability and congenital anomalies, such as hypotonia, genital abnormalities in males (cryptorchidism), and patellar hypoplasia/agenesis (1). [frontiersin.org]

  In addition, hypotonia, hyperextensible joints, cryptorchidism, and a wide range of congenital malformations are present.1,3 This type was recently shown to be caused by mutations in lysine acetyltransferase 6B (KAT6B [MIM 605880]).4 Here, we report that [ncbi.nlm.nih.gov]

• Global Developmental Delay

  The degree of global developmental delay/intellectual disability is variable, from mild to moderate. Some patients have speech delay despite normal hearing (2). [frontiersin.org]

  Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips [pubmed.ncbi.nlm.nih.gov]

• Multiple Renal Cysts

  However, GTPTS usually shows more severe clinical features, including agenesis of the corpus callosum with microcephaly, flexion contractures of the hips and knees, absent patellae, hydronephrosis, and/or multiple renal cysts (4, 5).The common phenotypes [frontiersin.org]

• Delayed Bone Age

  In the previous reported case, a Chinese boy, who presented with short stature, delayed bone age, and growth hormone deficiency, was screened using targeted next generation sequencing, and a de novo novel nonsense pathogenic mutation in exon14 of the [frontiersin.org]

The levels of lipid ROS and iron were promoted by the treatment of erastin and the overexpression of KAT6B could reverse the effect in the cells. [hindawi.com]

Management: Treatment of manifestations: Medical problems associated with gastrointestinal, genitourinary, cardiac, palatal or dental anomalies; abnormal vision or lacrimal duct abnormality; hearing loss; or hypothyroidism associated with KAT6B disorders [pubmed.ncbi.nlm.nih.gov]

"[8] List of ciliopathies "The phenotypic parameters that define a ciliopathy may be used to both recognize the cellular basis of a number of genetic disorders and to facilitate the diagnosis and treatment of some diseases of unknown" cause.[6] Known [scientiait.com]

Introduction Glioma serves as a prevalent malignancy among brain tumors in adults, which is also highly aggressive and with grave prognosis [1]. [hindawi.com]

Etiologies and early diagnosis of short stature and growth failure in children and adolescents. J Pediatr. (2014) 164:S1–14. doi: 10.1016/j.jpeds.2014.02.027 PubMed Abstract | CrossRef Full Text | Google Scholar 10. [frontiersin.org]

The exact etiology remains unclear; however, there might be a possible interaction between FGFR and the RAS/MAPK signaling pathways [Takenouchi et al., 2014; Addissie et al., 2015]. [karger.com]

Incidence, aetiology and epidemiology of uterine fibroids. Best Pract. Res. Clin. Obstet. Gynaecol. 2008;22:571–588. [ncbi.nlm.nih.gov]

[…] movement abnormalities Hydrocephalus Hypoplasia of the corpus callosum Hypotonia Infertility Cognitive impairment/defects Obesity[8] Other polydactyly Respiratory dysfunction Renal cystic disease Retinal degeneration Sensorineural deafness Spina bifida Pathophysiology [scientiait.com]

The exact pathophysiology is not clear yet. P4HB encodes for protein disulfide isomerase (PDI), which is involved in endoplasmic reticulum stress [Rauch et al., 2015]. [karger.com]