Autosomal recessive acro‐fronto‐facio‐nasal dysostosis associated with genitourinary anomalies: A third case report

Chaâbouni, M; Mâazoul, Faouzi; Hamida, Amira Ben; Berhouma, Moncef; Marrakchi, Z.; Chaâbouni, Habiba

doi:10.1002/ajmg.a.32349

Cited by 6 publications

(8 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Type I (OMIM 201180) consisted of short stature, hypertelorism, broad and bifid nasal tip, cleft lip and/or palate, postaxial camptobrachypolysyndactyly, other skeletal anomalies and ID (Richieri‐Costa et al, ), whereas the later described type II (OMIM 239710) consisted of facial midline defects, polysyndactyly, and genitourinary anomalies, but not ID (Richieri‐Costa, Montagnoli, & Kamiya, ). Only a few patients with AFFND have been reported after the first description (Balci et al, ; Chaabouni et al, ; Guion‐Almeida & Richieri‐Costa, ; Naguib, ; Prontera et al, ; Teebi, ). All reported patients had ear anomalies, long philtrums, and syndactyly, whereas two brothers also had upper lid colobomas (Balci et al, ), and one patient had glaucoma (Chaabouni et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Only a few patients with AFFND have been reported after the first description (Balci et al, ; Chaabouni et al, ; Guion‐Almeida & Richieri‐Costa, ; Naguib, ; Prontera et al, ; Teebi, ). All reported patients had ear anomalies, long philtrums, and syndactyly, whereas two brothers also had upper lid colobomas (Balci et al, ), and one patient had glaucoma (Chaabouni et al, ). Facial appearance in this sibling pair, presence of ID, acral findings, and glaucoma in both sisters may be more consistent with AFFND.…”

Section: Discussionmentioning

confidence: 99%

“…Craniofacial features include brachycephaly with wide anterior fontanel, prominent forehead with low frontal and occipital hairlines, flat malar region, hypertelorism, broad and bifid nasal tip with a broad philtrum, cleft upper lip, and highly‐arched palate, prognathism, and small ears with prominent helices (Richieri‐Costa, Colletto, Gollop, & Masiero, ). Eye anomalies including bilateral ptosis, coloboma of the upper lids, cataracts, congenital glaucoma, and iris atrophy have been reported (Chaabouni et al, ; Guion‐Almeida & Richieri‐Costa, ; Richieri‐Costa, Guion‐Almeida, & Pagnan, ). Skeletal features include syndactyly of fingers 3–4, small toes 3–5, and other structural anomalies of feet, with occasional fibular hypoplasia and short stature.…”

Section: Introductionmentioning

confidence: 99%

“…Skeletal features include syndactyly of fingers 3–4, small toes 3–5, and other structural anomalies of feet, with occasional fibular hypoplasia and short stature. Hypospadias, with or without cleft glans, and bifid scrotum were reported (Chaabouni et al, ; Naguib, ; Teebi, ). The disorder is autosomal recessively inherited.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

Taşkıran

Karaosmanoğlu

Koşukçu

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, broad and bulbous noses, and mild prognathism. Both had glaucoma, younger one also had cataracts and phthisis bulbi. Other findings included bilateral partial cutaneous syndactyly of 2nd and 3rd fingers, history of impacted teeth with dentigerous cyst in the elder one, and intellectual disability (mild and borderline). The sisters were considered to have Elsahy-Waters syndrome. In order to elucidate the underlying molecular cause, sisters and their healthy parents were genotyped by SNP arrays, followed by homozygosity mapping. Homozygous regions were further analyzed by exome sequencing in one affected individual. A homozygous indel variant segregating with the condition was detected in CDH11 (c.1116_1117delinsGATCATCAG, p.(Ile372MetfsTer9)), which was then validated by using Sanger sequencing. CDH11 encodes cadherin 11 (osteo-cadherin) that regulates cell-cell adhesion, cell polarization and migration, as well as osteogenic differentiation. Further experiments revealed that CDH11 expression was decreased in patient-derived fibroblasts as compared to the heterozygous parent and another healthy donor. Immunostaining showed absence of the protein expression in patient fibroblasts. In addition, cell proliferation rate was slow and osteogenic differentiation potential was delayed. We consider that this study reveals loss-of-function mutations in CDH11 as a probable cause of this phenotype. Next generation sequencing in further patients would both prove this gene as causative, and finely delineate this clinical spectrum further contributing in identification of other possibly involved gene(s).

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

Taşkıran

Karaosmanoğlu

Koşukçu

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Reported individuals have been born to consanguineous parents, and sibling recurrence supports autosomal recessive inheritance, although gonadal mosaicism cannot be totally excluded [Richieri-Costa et al, 1989;Guion-Almeida and Richieri-Costa, 2003;Chaabouni et al, 2008;Prontera et al, 2011].…”

Section: Phenotypic Spectrum Of the Fndsmentioning

confidence: 99%

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

et al. 2016

View full text Add to dashboard Cite

The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole. Defects of the craniofacial midline can have a profound impact on both form and function, manifesting in a diverse array of phenotypes and clinical entities that can be broadly defined as frontonasal dysplasias (FNDs). Recent advances in the identification of the genetic basis of FNDs along with the analysis of developmental mechanisms impacted by these mutations have dramatically altered our understanding of this complex group of conditions.

show abstract

Genetic diseases in the Tunisian population

Romdhane

Abdelhak

2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Tunisia is one of the North African countries, geographically situated in a central position at the crossroad between Africa and Europe. The demographic features of the Tunisian population include among others high rates of consanguinity. We report, here on the spectrum of genetic diseases in Tunisia. The review of the literature, including other available information (gray literature) showed that there are at least 346 genetic disorders for which cases have been identified in the Tunisian population. Among these, 62.9% are autosomal recessive, 23% autosomal dominant, 5.4% X-linked, and the remaining are of Y-linked, mitochondrial, and unknown mode of transmission. Fifty percent of the reported conditions in this study are caused by at least one mutation. For autosomal recessive diseases, most of the mutations were identified at homozygous state among the affected individuals. Part of the mutations was the result of a founder effect; these are the consequences of the high rate of consanguinity. The congenital malformations, diseases of the nervous system and metabolic disorders are the major groups of genetic diseases affecting the Tunisian population. The large spectrum of diseases and their relatively high frequency could be explained by the high degree of inbreeding and the presence of multiple mutations, either allelic or in different genes. This is due to the richness of the genetic background of the studied population. A multidisciplinary approach is essential to develop adequate preventive programmes adapted to the social, cultural, and economic context.

show abstract

Autosomal recessive acro‐fronto‐facio‐nasal dysostosis associated with genitourinary anomalies: A third case report

Cited by 6 publications

References 4 publications

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

Genetic diseases in the Tunisian population

Contact Info

Product

Resources

About