<i>IMPAD1</i> mutations in two Catel‐Manzke like patients

Nizon, Mathilde; Alanay, Yasemin; Tüysüz, Beyhan; Kiper, Pelin Özlem Şimşek; Geneviève, David; Sillence, David; Huber, Céline; Münnich, Arnold; Cormier‐Daire, Valérie

doi:10.1002/ajmg.a.35504

Cited by 32 publications

(40 citation statements)

References 14 publications

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“…In Individual 1, an additional clinodactyly of the digits and V is visible (Figure 1e). Thus, our findings demonstrate that the clinical manifestation of the "digital" phenotype varies greatly Manzke et al (2008), I-5 described in Catel and Heintzen (1963), Manzke (1966), and Manzke et al (2008)), I-6 described in Kant, Oudshoorn, Gi, Zonderland, and Van Haeringen (1998), I-7 described in Nizon, Alanay et al (2012).…”

Section: Discussionsupporting

confidence: 52%

“…Individuals without one of the two major hallmarks or with additional hand malformations have been described as atypical or Catel‐Manzke‐like syndrome (Manzke et al, ). Although TGDS pathogenic variants were detected in a fetus with additional shortening of the middle fingers (Schoner et al, ), and IMPAD1 pathogenic variants were detected in two other individuals with Catel‐Manzke‐like syndrome (Nizon, Alanay, et al, ), the genetic cause remains unknown in the majority of atypical cases.…”

Section: Introductionmentioning

confidence: 99%

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TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy

Boschann

Stuurman

Bruin

et al. 2019

American J of Med Genetics Pt A

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Catel‐Manzke syndrome, also known as micrognathia‐digital‐syndrome, is a rare autosomal recessive disorder characterized by the combination of the two cardinal features Pierre‐Robin sequence and bilateral hyperphalangy leading to ulnar clinodactyly (ulnar curvature of the phalanges) and radial deviation (radial angulation at the metacarpophalangeal joint) of the index fingers. Individuals without one of these major hallmarks or with additional hand malformations have been described as atypical or Catel‐Manzke‐like syndrome. Biallelic TGDS pathogenic variants have thus far been detected in eight individuals with typical Catel‐Manzke syndrome and in one fetus with additional features. Here we report on two individuals with TGDS pathogenic variants who presented with mild radial deviation and ulnar clinodactyly of the index fingers but without radiologic signs of hyperphalangy. Furthermore, both individuals have disproportionate short stature, a feature that has not yet been associated with Catel‐Manzke syndrome. Our data broaden the phenotypic spectrum of TGDS‐associated Catel‐Manzke syndrome and expand the indication for diagnostic testing.

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Section: Discussionsupporting

confidence: 52%

Section: Introductionmentioning

confidence: 99%

TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy

Boschann

Stuurman

Bruin

et al. 2019

American J of Med Genetics Pt A

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“…Extra (accessory or supernumerary) ossification centers are characteristic features of Larsen syndrome (24,25), Desbuquois dysplasia type 1 (5,26,27), chondrodysplasia with luxations, gPAPP type (8,28), Catel-Manzke syndrome (12,29) and Temtamy preaxial brachydactyly syndrome (11,30). (Fig.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Extra ossification centers distal to metacarpals traditionally called 'hyperphalangism' are observed in IMPAD1-, CHSY1-and TGDS-related disorders (8,11,12,28,29). In IMPAD1 cases, they occur distal to short metacarpals and are associated to irregular sizes of fingers (8,28). Besides prominent dysmorphic features, frequent cleft palate and severe growth retardation (8,28), virtually all IMPAD1 cases reported to date, are characterized by carpal synostosis (28)(this publication).…”

Section: Discussionmentioning

confidence: 99%

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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

et al. 2017

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The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG). In a series of 30 patients with multiple dislocations, we have performed exome sequencing and subsequent targeted analysis of 15 genes, implicated in chondrodysplasia with multiple dislocations, and related conditions. We have identified causative pathogenic variants in 60% of patients (18/30); when a clinical diagnosis was suspected, this was molecularly confirmed in 53% of cases. Forty percent of patients remain without molecular etiology. Pathogenic variants in genes implicated in PG synthesis are of major importance in chondrodysplasia with multiple dislocations and related conditions. The combination of hand features, growth failure severity, radiological aspects of long bones and of vertebrae allowed discrimination among the different conditions. We propose key diagnostic clues to the clinician.

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Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half‐siblings

Pogue

Marques

Kopacek³

et al. 2017

American J of Med Genetics Pt A

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Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive pattern of inheritance, although due to the high degree of consanguinity a compound etiology of the phenotype by variants in various genes may be present as well.

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IMPAD1 mutations in two Catel‐Manzke like patients

Cited by 32 publications

References 14 publications

TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy

TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half‐siblings

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