Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS).@*METHODS@#A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis.@*RESULTS@#The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS.@*CONCLUSION@#The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.

Malformação venosa associada a hiperelasticidade cutânea e atrofia do tecido subcutâneo / Venous malformation associated with skin hyperelasticity and subcutaneous atrophy

A rigidez da parede venosa pode aumentar em síndromes em que há uma redução da quantidade de elastina, ocasionando malformações venosas mesmo em indivíduos que possuem mosaicismo para tais síndromes. Casos com apresentação de afecções colagenosas em áreas delimitadas não foram descritos na literatura. O paciente apresentava lesão bem delimitada em região anteromedial da coxa com aumento de elasticidade e presença de vasos tortuosos apenas no local da lesão, não apresentando nenhuma síndrome colagenosa. Foi realizada uma biópsia que evidenciou alterações em relação ao padrão das fibras elásticas e proliferação de vasos sanguíneos. A malformação venosa foi tratada satisfatoriamente com embolização. As doenças do colágeno causam hiperextensibilidade cutânea, o que provoca flacidez e propicia traumas. As colagenoses bem delimitadas são raras, pois geralmente esse grupo de doenças envolve acometimento sistêmico. As malformações vasculares podem ocorrer em diversas doenças do colágeno, mas de forma generalizada e não localizada, e uma explicação para isso seria o mosaicismo genético.

In syndromes that involve reduced quantities of elastin, the rigidity of vein walls may be increased, causing venous malformations, even in people who have mosaicism for these syndromes. There are no previous descriptions in the literature of collagen diseases presenting in specific, delimited areas. The patient described here presented with a lesion restricted to a well-defined area of the anteromedial thigh, in which elasticity was increased and vessels were tortuous, in the area of the lesion only, and with no other signs of collagen syndromes. A biopsy was conducted and the findings included changes to the normal arrangement of the elastic fibers and proliferation of blood vessels. The venous malformation was treated satisfactorily by embolization. Collagen diseases can cause cutaneous hyperextensibility, provoking flaccidity and a propensity to traumatisms. Connective tissue diseases restricted to well-delimited areas are rare, since this group of diseases usually has systemic involvement. Vascular malformations can be seen in many different collagen diseases, but with generalized rather than localized presentation. One possible explanation for the case described here is genetic mosaicism.

Escobar syndrome in three male patients of same family.

We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.

Frequency of genodermatoses among Iraqi patients

Genodermatoses are hereditary skin disorders or anomalies which can be grouped into three categories: chromosomal, single gene and multifactorial. Most genodermatoses show single gene or Mendelian inheritance [autosomal dominant, autosomal recessive or X-linked recessive genes]. To asses the frequency of genodermatoses among Iraqi patients in outpatients Dermatology and Venereology comparison with other countries. This case series descriptive epidemiological study included eighty three patients [57males and 26 females] with genodermatoses. They consulted the out patient clinic/ Department of Dermatology and Venereology Baghdad Teaching Hospital from April 2005 through April 2006. Their ages ranged from 2months-60 years [Median 10 years],With various genetic diseases. Full history, dermatological and clinical examinations were done to establish the clinical diagnosis of genodermatoses regarding all demographic points related to these disorders. The frequency of genodermatoses among outpatient attendant in Dermatology and Venereology Department was 837 20000 [0.42%]. This study had shown that the most common genodermatoses were; ichthyosis: 21 [25.3%] patients and epidermolysis bullosa which contain 16 [19.3%] patients when taken together they constituted 37 [44.6%] patients of the total, neurofibromatosis 8 [9.6%], hereditary palmoplantar keratoderma 6 [7.2%], darier's disease 5 [6%] and xeroderma pigmentosa 4 [4.8%]. Positive family history of the same disease was obtained in;8 [38.1%] patients with ichthyosis, 4 [66.6%] in hereditary palmoplantar keratoderma, 2 [12.5%] in epidermolysis bullosa and all patients with Hailey-Hailey disease had positive family history of the same condition. Consanguinity was positive in; 13 [61.9%] patients of ichthyosis, 12 [75%] epidermolysis bullosa, 2 [33.3%] hereditary palmoplantar keratoderma and [100%] patients with xeroderma pigmentosa Genodermatoses are frequently encountered among Iraqi dermatological outpatients and more common in families with positive consanguinity and were comparable to other countries

Prenatal Diagnosis of Restrictive Dermopathy.

We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements. Clavicular hypoplasia was a consistent radiological feature. Molecular diagnosis in the parents facilitated prenatal diagnosis from chorionic villous sample (CVS) in the subsequent pregnancy.