Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance

American Journal of Medical Genetics. Part a
Ariane BlattnerBenno Röthlisberger

Abstract

Split-hand/foot malformation (SHFM) is a limb malformation affecting the central rays of the hands and/or feet. Isolated SHFM occurs within families but more often sporadically. Since most families with more than one patient show dominant inheritance with reduced penetrance, sporadic SHFM is generally considered to be due to dominantly inherited new mutations. Recently, recessive inheritance of SHFM was proposed in a highly consanguineous family with a homozygous missense mutation in WNT10B. Nevertheless, the assumption of a second locus was necessary to explain the observed phenotypes in this family. To date, no other family and no case of sporadic SHFM with WNT10B mutations are known. By examining WNT10B in a patient with sporadic SHFM, we identified a homozygous 4-bp duplication resulting in a premature termination codon. Nine heterozygous relatives show no sign of SHFM. These findings have profound implications for genetic counseling. Obviously, sporadic SHFM may show recessive rather than dominant inheritance resulting in a 25% recurrence risk for sibs instead of a very low-recurrence risk as generally presumed. Likewise, there is a very low-recurrence risk for offspring of patients (unless there is consanguinity) instead ...Continue Reading

References

Feb 1, 1989·Journal of Medical Genetics·J Zlotogora, N Nubani
Jul 1, 1970·The Journal of Heredity·A K Ray
Jan 1, 1971·The Journal of Heredity·A Freire-Maia
Jun 3, 2008·Human Molecular Genetics·Sibel Aylin Ugur, Aslihan Tolun

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Citations

Jun 6, 2013·International Journal of Colorectal Disease·Pengjun SuZhibo Zhang
Mar 31, 2011·Acta Physiologica·P WendG A Miranda-Carboni
Oct 30, 2012·Endocrine·Jasmijn K Van CampSigri Beckers
May 26, 2012·American Journal of Medical Genetics. Part a·Tadeusz BieganskiMalwina Czarny-Ratajczak
Oct 12, 2013·American Journal of Medical Genetics. Part a·Fiorella Gurrieri, David B Everman
Sep 10, 2014·Birth Defects Research. Part A, Clinical and Molecular Teratology·Anna Sowińska-SeidlerAleksander Jamsheer
Oct 29, 2013·Journal of Applied Genetics·Anna Sowińska-SeidlerAleksander Jamsheer
Feb 26, 2013·Seminars in Arthritis and Rheumatism·Eveline BoudinWim Van Hul
Apr 20, 2017·Genetic Testing and Molecular Biomarkers·Lihua CaoYang Luo
Feb 1, 2018·Genetics and Molecular Biology·Asmat UllahWasim Ahmad
Jan 25, 2018·Clinical Genetics·P N KantaputraJ R Ketudat Cairns
May 3, 2019·American Journal of Medical Genetics. Part a·Perrine BrunelleFlorence Petit
Aug 26, 2017·Case Reports in Pediatrics·Girish Gulab MeshramNeeraj Kaur
Feb 6, 2020·Molecular Syndromology·Muhammad Umair, Amir Hayat
Apr 25, 2020·Frontiers in Endocrinology·Yentl HuybrechtsWim Van Hul

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