Ullah, Irfan, Kakar, Naseebullah, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Hussain, Shabir ORCID: 0000-0001-5744-4292, Chakchouk, Imen, Liaqat, Khurram, Acharya, Anushree, Wasif, Naveed, Santos-Cortez, Regie Lyn P., Khan, Saadullah ORCID: 0000-0001-5037-1473, Aziz, Abdul, Lee, Kwanghyuk, Couthouis, Julien, Horn, Denise, Kragesteen, Bjort K., Spielmann, Malte, Thiele, Holger, Nickerson, Deborah A., Bamshad, Michael J., Gitler, Aaron D., Ahmad, Jamil, Ansar, Muhammad ORCID: 0000-0001-5891-7063, Borck, Guntram, Ahmad, Wasim and Leal, Suzanne M. (2019). Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum. Genet., 138 (6). S. 593 - 601. NEW YORK: SPRINGER. ISSN 1432-1203

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Abstract

Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of polydactyly can serve as a tool to elucidate genetic and signaling pathways that regulate limb development, specifically, the anterior-posterior specification of the limb. To date, only five genes have been identified for nonsyndromic PAP: FAM92A, GLI1, GLI3, IQCE and ZNF141. In this study, two Pakistani multiplex consanguineous families with autosomal recessive nonsyndromic PAP were clinically and molecularly evaluated. From both pedigrees, a DNA sample from an affected member underwent exome sequencing. In each family, we identified a segregating frameshift (c.591dupA [p.(Q198Tfs*21)]) and nonsense variant (c.2173A>T [p.(K725*)]) in KIAA0825 (also known as C5orf36). Although KIAA0825 encodes a protein of unknown function, it has been demonstrated that its murine ortholog is expressed during limb development. Our data contribute to the establishment of a catalog of genes important in limb patterning, which can aid in diagnosis and obtaining a better understanding of the biology of polydactyly.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ullah, IrfanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kakar, NaseebullahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schrauwen, IsabelleUNSPECIFIEDorcid.org/0000-0001-7310-6082UNSPECIFIED
Hussain, ShabirUNSPECIFIEDorcid.org/0000-0001-5744-4292UNSPECIFIED
Chakchouk, ImenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liaqat, KhurramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Acharya, AnushreeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wasif, NaveedUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Santos-Cortez, Regie Lyn P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khan, SaadullahUNSPECIFIEDorcid.org/0000-0001-5037-1473UNSPECIFIED
Aziz, AbdulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, KwanghyukUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couthouis, JulienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horn, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kragesteen, Bjort K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spielmann, MalteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nickerson, Deborah A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bamshad, Michael J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gitler, Aaron D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahmad, JamilUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ansar, MuhammadUNSPECIFIEDorcid.org/0000-0001-5891-7063UNSPECIFIED
Borck, GuntramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahmad, WasimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leal, Suzanne M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-146701
DOI: 10.1007/s00439-019-02000-0
Journal or Publication Title: Hum. Genet.
Volume: 138
Number: 6
Page Range: S. 593 - 601
Date: 2019
Publisher: SPRINGER
Place of Publication: NEW YORK
ISSN: 1432-1203
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
LIMB DEVELOPMENT; GENE; FRAMEWORKMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14670

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