Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report.

Congenital muscular dystrophies (CMD) are a heterogeneous group of disorders caused by mutations in musculoskeletal proteins. The most common type of CMD in Europe is Merosin-deficient CMD caused by mutations in laminin-α2 protein. Very few studies reported pathogenic variants underlying these disorders especially from Africa. In this study we report a rare variant (p.Arg148Trp, rs752485547) in LAMA2 gene causing a mild form of Merosin-deficient CMD in a Sudanese family. The family consisted of two patients diagnosed clinically with congenital muscular dystrophy since childhood and five healthy siblings born to consanguineous parents. Whole exome sequencing was performed for the two patients and a healthy sibling. A rare missense variant (p.Arg148Trp, rs752485547) in LAMA2 gene was discovered and verified using Sanger sequencing. The segregation pattern was consistent with autosomal recessive inheritance. The pathogenicity of this variant was predicted using bioinformatics tools. More studies are needed to explore the whole spectrum of mutations in CMD in patients from Sudan and other parts of the world.

Contribution of noncommunicable diseases to medical admissions of elderly adults in Africa: a prospective, cross-sectional study in Nigeria, Sudan, and Tanzania.

OBJECTIVES: To describe the nature of geriatric medical admissions to teaching hospitals in three countries in Africa (Nigeria, Sudan, Tanzania) and compare them with data from the United Kingdom. DESIGN: Cross-sectional cohort study. SETTING: Federal Medical Centre, Idi-Aba, Abeokuta, Nigeria; Soba University Hospital, Khartoum, Sudan; Kilimanjaro Christian Medical Centre, Moshi, Tanzania; and North Tyneside General Hospital, North Shields, United Kingdom. PARTICIPANTS: All people aged 60 and older urgently medically admitted from March 1 to August 31, 2012. MEASUREMENTS: Data were collected regarding age, sex, date of admission, length of stay, diagnoses, medication, date of discharge or death, and discharge destination. RESULTS: In Africa, noncommunicable diseases (NCDs) accounted for 81.0% (n=708) of admissions (n=874), and tuberculosis, malaria, and the human immunodeficiency virus and acquired immunodeficiency syndrome accounted for 4.6% (n=40). Cerebrovascular accident (n=224, 25.6%) was the most common reason for admission, followed by cardiac or circulatory dysfunction (n=150, 17.2%). Rates of hypertension were remarkably similar in the United Kingdom (45.8%) and Africa (40.2%). CONCLUSIONS: In the elderly population, the predicted increased burden of NCDs on health services in Africa appears to have occurred. Greater awareness and some reallocation of resources toward NCDs may be required if the burden of such diseases is to be reduced.