Another Case of Split-Foot Mutation in Two Sibs

Ray, Ajit Kisor

doi:10.1093/oxfordjournals.jhered.a108073

Cited by 15 publications

(7 citation statements)

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“…Emery (1977) first raised the question of minor hand anomalies such as split nail or extra joints as partial expression of SHFM. Two or more affected sibs with two normal parents have been noted by several authors (MacKenzie and Penrose 1951; Graham and Badgley 1955;Ray 1960;Verma et al 1976;Zlotogora and Nubani 1989;Majewski et al 1996), and this has sometimes been used as evidence for recessive inheritance (Zlotogora and Nubani 1989). Premutation of an autosomal dominant SHFM gene provides an alternative explanation.…”

Section: Discussionmentioning

confidence: 97%

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion

Özen

Baysal

Devlin

et al. 1999

The American Journal of Human Genetics

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Split-hand/split-foot malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human limb malformation characterized by aberrant development of central digital rays with absence of fingers and toes, a deep median cleft, and fusion of remaining digits. SHFM is clinically heterogeneous, presenting both in an isolated form and in combination with additional abnormalities affecting the tibia and/or other organ systems, including the genitourinary, craniofacial, and ectodermal structures. Three SHFM disease loci have been genetically mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q24 (SHFM3). We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240. In several instances we found evidence for a more severe phenotype in offspring of a mildly affected parent, suggesting anticipation. Finally, data from this family, combined with those from six other pedigrees, mapped to 10q24, demonstrate biased transmission of SHFM3 alleles from affected fathers to offspring. The degree of this segregation distortion is obvious in male offspring and is possibly of the same magnitude for female offspring.

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Section: Discussionmentioning

confidence: 97%

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion

Özen

Baysal

Devlin

et al. 1999

The American Journal of Human Genetics

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“…Only few reports of SHFM are consistent with X‐linked inheritance (SHFM2, Xq26) [Faiyaz‐Ul‐Haque et al, 2005] or autosomal recessive inheritance (SHFM6) [Klein, 1932; Ray, 1970; Freire‐Maia, 1971; Verma et al, 1976; Zlotogora and Nubani, 1989; Gul and Oktenli, 2002]. Therefore, sporadic patients of isolated SHFM are considered to be generally the result of de novo dominant mutations.…”

Section: Discussionmentioning

confidence: 99%

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

Blattner

Huber

Röthlisberger

2010

American J of Med Genetics Pt A

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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 of an estimated risk between 30% and 50%. It can be concluded that sporadic SHFM is not always a dominant trait. To determine the recurrence risk, patients affected with sporadic SHFM should be tested for mutations in WNT10B.

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“…9 Ray and Freire-Maia also reported autosomal recessive ectrodactyly. [10][11] The treatment of ectrodactyly is surgical. Surgery can improve function and appearance of the limb.…”

Section: Discussionmentioning

confidence: 99%

Split-hand/split-foot malformation (SHFM)

et al. 2014

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A B S T R A C T Access this article online Website:http://nepjol.info/index.php/AJMS Split-hand/split-foot malformation (SHFM), also known as ectrodactyly or lobster claw hand is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays of the autopod. It may occur singly or in association with syndromes, former being mostly autosomal dominant but autosomal recessive variety is rare. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance.

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Another Case of Split-Foot Mutation in Two Sibs

Cited by 15 publications

References 0 publications

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion

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

Split-hand/split-foot malformation (SHFM)

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