Achondroplasia with multiple‐suture craniosynostosis: A report of a new case of this rare association

Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C.; Oláh, Éva

doi:10.1002/ajmg.a.36130

Cited by 18 publications

(22 citation statements)

References 17 publications

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“…In Patient 18, molecular analysis detected the achondroplasia‐specific c.1138G>A(p.Gly380Arg) mutation. Clinical and genetic investigation of this patient has been previously reported in detail [Bessenyei et al, ].…”

Section: Resultsmentioning

confidence: 99%

Clinical and genetic characteristics of craniosynostosis in Hungary

Bessenyei

Nagy

Szakszon

et al. 2015

American J of Med Genetics Pt A

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Craniosynostosis, the premature closure of cranial sutures, is a common craniofacial disorder with heterogeneous etiology and appearance. The purpose of this study was to investigate the clinical and molecular characteristics of craniosynostoses in Hungary, including the classification of patients and the genetic analysis of the syndromic forms. Between 2006 and 2012, 200 patients with craniosynostosis were studied. Classification was based on the suture(s) involved and the associated clinical features. In syndromic cases, genetic analyses, including mutational screening of the hotspot regions of the FGFR1, FGFR2, FGFR3, and TWIST1 genes, karyotyping and FISH study of TWIST1, were performed. The majority (88%) of all patients with craniosynostosis were nonsyndromic. The sagittal suture was most commonly involved, followed by the coronal, metopic, and lambdoid sutures. Male, twin gestation, and very low birth weight were risk factors for craniosynostosis. Syndromic craniosynostosis was detected in 24 patients. In 17 of these patients, Apert, Crouzon, Pfeiffer, Muenke, or Saethre-Chotzen syndromes were identified. In one patient, multiple-suture craniosynostosis was associated with achondroplasia. Clinical signs were not typical for any particular syndrome in six patients. Genetic abnormalities were detected in 18 syndromic patients and in 8 relatives. In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome. Our results indicate that detailed clinical assessment is of paramount importance in the classification of patients and allows indication of targeted molecular testing with the highest possible diagnostic yield.

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Section: Resultsmentioning

confidence: 99%

Clinical and genetic characteristics of craniosynostosis in Hungary

Bessenyei

Nagy

Szakszon

et al. 2015

American J of Med Genetics Pt A

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“…FGFR2, FGFR1, FGFR3, and TWIST1 that were involved in CS. [ 10 ] Many of these genes could be enriched into different gene groups involved in different signaling pathways. Hence, it is clear that different craniofacial deformities and different biological process were involved in these syndromes.…”

Section: Introductionmentioning

confidence: 99%

Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

et al. 2015

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Background:Craniosynostosis (CS) syndrome is an autosomal dominant condition classically combining craniosynostosis and non-syndromic craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a larger number of cases can be attributed to mutations outside this region of the protein.Aims:To find out the FGFR1, FGFR2, FGFR3 and FGFR4 gene in craniosynostosis syndrome.Settings and Design:A hospital based prospective study.Materials and Methods:Prospective analysis of clinical records of patients registered in CS clinic from December 2007 to January 2015 was done in patients between 4 months to 13 years of age. We have performed genetic findings in a three generation Indian family with Craniosynostosis syndrome.Results:We report for the first time the clinical and genetic findings in a three generation Indian family with Craniosynostosis syndrome caused by a heterozygous missense mutation, Thr 392 Thr and ser 311 try, located in the IgII domain of FGFR2. FGFR 3 and 4 gene basis syndrome was eponymously named. Genetic analysis demonstrated that 51/56 families to be unrelated. In FGFR3 gene 10/TM location of 1172 the nucleotide changes C>A, Ala 391 Glu 19/56 and Exon-19, 5q35.2 at conserved linker region the changes occurred pro 246 Arg in 25/56 families.Conclusions:Independent genetic origins, but phenotypic similarities in the 51 families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation.

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“…This partially explains why among FGFR3 ‐related chondrodysplasias, craniosynostosis is a main feature in patients with Muenke syndrome, Crouzon with acanthosis nigricans (MIM #612247), and thanatophoric dysplasia type 2 (MIM #187601). Therefore, it seems plausible that this same mechanism might be involved in the co‐occurrence of craniosynostosis in our patient and the other molecularly proven HCH patient (Angle et al, ), as well as in the other six ACH patients known to date (Accogli et al, ; Albino et al, ; Bessenyei et al, ; Georgoulis et al, ; Karadimas et al, ).…”

Section: Discussionmentioning

confidence: 56%

Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family

Ángel

Caro-Contreras

Alcántara-Ortigoza

et al. 2017

American J of Med Genetics Pt A

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Hypochondroplasia (HCH) is a skeletal dysplasia caused by an abnormal function of the fibroblast growth factor receptor 3. Although believed to be relatively common, its prevalence and phenotype are not well established owing to its clinical, radiological, and genetic heterogeneity. Here we report on a molecularly proven HCH family with an affected father and two children. The siblings (male and female) with HCH also had craniosynostosis and cleft palate, respectively. The present report supports the conclusion that the full clinical spectrum of HCH is not completely delineated. It also suggests that secondary, as yet unknown, modifying factors can influence the final phenotype.

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Achondroplasia with multiple‐suture craniosynostosis: A report of a new case of this rare association

Cited by 18 publications

References 17 publications

Clinical and genetic characteristics of craniosynostosis in Hungary

Clinical and genetic characteristics of craniosynostosis in Hungary

Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family

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