Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Malik, Sajid; Girisha, Katta M.; Wajid, Muhammad; Roy, Akhilesh Kumar; Phadke, Shubha R.; Haque, Sayedul; Ahmad, Wasim; Koch, Manuela C.; Grzeschik, K.-H.

doi:10.1186/1471-2350-8-78

Cited by 18 publications

(16 citation statements)

References 15 publications

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“…This variant was also witnessed in few of the affected subjects, in two Asian families segregating with SPD1 (Fig. 1, B1) (5). This phenotype is the second most frequent non‐syndromic syndactyly type (15) and has been regarded as a part of type I syndactyly (OMIM 185900) (3, 16).…”

Section: The Problem Of Clinical Overlap With Other Syndactyly Typesmentioning

confidence: 87%

“…Finally, Malik et al (5) described two Asian SPD families and identified four distinctive clinical categories (Fig. 1):…”

Section: The Problem Of Clinical Heterogeneity: Which Syndactyly Typementioning

confidence: 99%

“…However, an overall penetrance of 95% has been calculated when very mild manifestations were also included in large families (4). The marked lack of penetrance, in certain cases, could be explained because of bias of ascertainment (5). Furthermore, because of the prismatic nature of SPD, it is quite likely that the minor phenotypes are overlooked, which is readily possible when radiograms are not available for all family subjects.…”

Section: The Problem Of Reduced Penetrancementioning

confidence: 99%

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Synpolydactyly: clinical and molecular advances

Malik

2007

Clinical Genetics

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Synpolydactyly (SPD) is a rare limb deformity showing a distinctive combination of syndactyly and polydactyly. Of the nine non-syndromic syndactylies, it is clinically and genetically one of the most heterogeneous malformation. SPD families may show clinical features consistent with the Temtamy and McKusick criteria as well as additional phenotypic variants, which vary from case to case. In certain instances, these variants predominate in a given family, while the typical SPD features remain less explicit. We have reviewed all the clinical variants occurring in well-documented SPD families. We conclude that typical SPD features can be delineated from minor clinical variants. Then, we propose to lump all the phenotypic variants, manifesting themselves in SPD families into three categories: (i) typical SPD features, (ii) minor variants, and (iii) unusual phenotypes. Next, we discuss the likely reasons for the occurrence of minor variants and the obvious lack of penetrance in SPD families. Finally, we show that for the SPD phenotype associated with HOXD13 mutations, a straightforward genotype-phenotype correlation is weak. Our lumping and splitting scheme for SPD phenotypic variants could be useful for the understanding of this interesting malformation.

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Section: The Problem Of Clinical Overlap With Other Syndactyly Typesmentioning

confidence: 87%

“…Finally, Malik et al (5) described two Asian SPD families and identified four distinctive clinical categories (Fig. 1):…”

Section: The Problem Of Clinical Heterogeneity: Which Syndactyly Typementioning

confidence: 99%

Section: The Problem Of Reduced Penetrancementioning

confidence: 99%

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Synpolydactyly: clinical and molecular advances

Malik

2007

Clinical Genetics

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“…Interestingly, expansion of the HOXD13 polyalanine with 6 or fewer Ala does not cause pathogenic limb malformations (Albrecht et al, 2004); indeed, 2 expansions of Ala residues did not produce clinical effects (Malik et al, 2007).…”

Section: Discussionmentioning

confidence: 98%

Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly

Qian

et al. 2012

Gene

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“…SPD may show clinodactyly and/or camptodactyly of 5th finger as minor clinical variants in different families, which appear as major phenotypes in the present family. However, both camptodactyly and/or clinodactyly are not considered as the diagnostic criteria for SPD [Malik et al, 2006, 2007; reviewed in Malik and Grzeschik, 2008]. Camptodactyly of mesoaxial toes, ulnar deviation of 3rd fingers and bifid hallux are also not the characteristics of SPD but are prominent in this kindred.…”

Section: Clinical Reportmentioning

confidence: 99%

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes

Malik

Afzal

Gul

et al. 2010

American J of Med Genetics Pt A

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We report on a 25-year follow-up of a Pakistani kindred with a unique combination of camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. The less common anomalies in the affected subjects include syndactyly involving all digits, and bifid toes. This condition is grossly bilateral, symmetrical, and affects upper and lower limbs of the 26 affected subjects in the kindred. The comparable number of affected male and female subjects (chi(2) = 0.154, P < 0.1), disease allele transmission by mother and father, and the malformation segregation in four consecutive generations are strongly suggestive of autosomal dominant inheritance. Differential diagnosis considered syndactyly types II, III, and V. Only type II syndactyly manifests noticeable phenotypic overlap with the clinical presentation in this family; however, the typical type II syndactyly changes are absent. To the best of our knowledge, this autosomal dominant limb phenotype has not been reported previously.

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Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Cited by 18 publications

References 15 publications

Synpolydactyly: clinical and molecular advances

Synpolydactyly: clinical and molecular advances

Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes

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