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18 Possible Causes for Mutation in the DLX5 Gene

  • Split Hand-Split Foot Malformation Type 1

    Most frequent variety, type I, is due to a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6. [1] Very few cases of SFHM with deafness were[cjhr.org] Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) can be caused by homozygous mutation in the DLX5 gene (OMIM 600028) on chromosome 7q21. [10] Some families[cjhr.org] Five different genetic mutations are known to be associated with SHFM.[cjhr.org]

  • Syndactyly

    […] of DLX5 and DLX6 in autism.[genecards.org] (PMID: 7907794) Simeone A … Huebner K (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22 58 Expression analysis and mutation detection[genecards.org] (PMID: 19195802) Nakashima N … Momoi MY (Brain & development 2010) 3 22 58 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in[genecards.org]

  • Adactyly of Foot

    Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028).[ncbi.nlm.nih.gov] […] in the WNT10B gene (601906) on chromosome 12q13.[ncbi.nlm.nih.gov] […] duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q27; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation[ncbi.nlm.nih.gov]

  • Ectrodactyly

    The genetic abnormalities involve a specific region containing homeobox genes DLX5 and DLX6, which are developmental regulatory genes located on chromosome 7.[symptoma.com] […] and DLX6 are compelling candidates in that locus, no intragenic mutations have been described in either of these genes.[doi.org] Type I, the most frequent variety, is due to a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6.[ 1 ] The syndromic form has a variable[ncbi.nlm.nih.gov]

  • Acrootoocular Syndrome

    Forms and Documents Test Details Genes: ANKRD11, ARHGAP31, ARID1A, ARID1B, BHLHA9, BMP2, BMPR1B, BTRC, CC2D2A, CDH3, CEP290, CHSY1, DLL4, DLX5, DOCK6, DPCD, DVL1, DVL3, DYNC1I1[genedx.com] Hum Mutat. 27:975-976, 2006.[genedx.com]

  • Proximal Symphalangism

    […] of DLX5 and DLX6 in autism.[genecards.org] (PMID: 7907794) Simeone A … Huebner K (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22 58 Expression analysis and mutation detection[genecards.org] (PMID: 19195802) Nakashima N … Momoi MY (Brain & development 2010) 3 22 58 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in[genecards.org]

  • Holt Oram Syndrome

    Forms and Documents Test Details Genes: Expand Genes ANKRD11, ARHGAP31, ARID1A, ARID1B, BHLHA9, BMP2, BMPR1B, BTRC, CC2D2A, CDH3, CEP290, CHSY1, DLL4, DLX5, DOCK6, DPCD, DVL1[genedx.com] Hum Mutat. 27:975-976, 2006.[genedx.com]

  • Rapp-Hodgkin Syndrome

    Abstract Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory[unboundmedicine.com] Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory[ncbi.nlm.nih.gov] Rapp–Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory[agris.fao.org]

  • Acrocapitofemoral Dysplasia

    Forms and Documents Test Details Genes: ANKRD11, ARHGAP31, ARID1A, ARID1B, BHLHA9, BMP2, BMPR1B, BTRC, CC2D2A, CDH3, CEP290, CHSY1, DLL4, DLX5, DOCK6, DPCD, DVL1, DVL3, DYNC1I1[genedx.com] Hum Mutat. 27:975-976, 2006.[genedx.com]

  • Premature Ovarian Failure

    Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations[ncbi.nlm.nih.gov] We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function[ncbi.nlm.nih.gov]

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