Progress in genetics of coronary artery disease

No Abstract

Cardiomyopathy in Vici syndrome

No Abstract

Cantu syndrome in an Egyptian child

We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long philtrum, small low set ears, high arched palate, excess hair on the cheeks, short neck and excess hair over extremities and back. The patient had patent ductus arteriosus ligation, and mild pulmonary hypertension. Our patient has an affected mother which is consistent with autosomal dominant inheritance.Keywords: Cantu syndrome, Hypertrichosis, Coarse feature

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Ichthyosis is a genetically and phenotypically heterogeneous disease that can be  isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. Here we describe an Egyptian child with generalized lamellar  ichthyosis and limb reduction defect. Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement.Keywords: Ichthyosis; Limb reduction; CHILD; Autosomal recessiv

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye. Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with BPES

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA) which are consistent with MOPD II

Genotyping of PPAR-γ gene polymorphism in Egyptian neonates affected with sepsis disease and its severity

Background: Peroxisome Proliferator-Activated Receptor gamma (PPARγ) is a ligand-dependent transcription factor involved in inflammatory process. PPAR-γ gene was mentioned as having a modulating role in the pathological status of sepsis. The present study aimed to make a correlation between The Pro12Ala polymorphism in PPAR-γ gene and occurrence of neonatal sepsis and its severity among a sample of Egyptian neonates suffering sepsis.Subjects and methods: This case-control study included 30 neonates (11 females and19 males) newly admitted with neonatal sepsis at the intensive care unit (NICU) (mean age 10.3 days ± 6.23). The control group included 50 age and sex matched neonates (23 females and 27 males) (mean age 10.20 days ± 5.36 days). All the neonates (preterm and full term) included were with clinical signs and laboratory data consistent with neonatal sepsis. Genotyping for PPARc gene region harboring the Pro12Ala variant locus were carried out using Tetra ARMS technique.Results: About 56.7% of the patients group was homozygote (GG) for polymorphic locus (coding for Alanine/Alanine) while 30% was heterozygote for polymorphic locus (CG) (coding for Proline/Alanine) and up to 13.3% was homozygote for the polymorphic locus (CC) (coding for Proline/Proline). Compared to the control group where homozygotes for CC were the most prevalent (90%) and the CG were 10% with absence of GG genotypes. There was a strong  statistical significant difference between patients and the normal control group as regards  prevalence of PPAR-γ gene  polymorphism in occurrence of neonatal sepsis and its severity. Also, there were strong relation between genotype GG and low birth weight, neonatal fever, prematurity and depressed neonatal reflexes.Conclusion: PPAR-γ gene has been suggested to be a candidate gene for neonatal sepsis. Therefore, Pro12Ala polymorphism might be useful in predicting the risk factor of neonatal sepsis and its severity

Consanguinity and its relevance to clinical genetics

Consanguineous marriages have been practiced since the early existence of modern humans. Until now, consanguinity is widely practiced in several global communities with variable rates. The present study was undertaken to analyze the effect of consanguinity on different types of genetic diseases and child morbidity and mortality. Patients were grouped according to the types of genetic errors into four groups: Group I: Chromosomal and microdeletion syndromes. Group II: Single gene disorders. Group III: Multifactorial disorders. Group IV: Diseases of different etiologies. Consanguineous marriage was highly significant in 54.4% of the studied group compared to 35.3% in the control group (P < 0.05). Consanguineous marriages were represented in 31.4%, 7.1%, 0.8%, 6%, 9.1% among first cousins, one and a half cousins, double first cousins, second cousins and remote relatives respectively in the studied group. Comparison between genetic diseases with different modes of inheritance showed that recessive and multifactorial disorders had the highest values of consanguinity (78.8%, 69.8%, respectively), while chromosomal disorders had the lowest one (29.1%). Consanguineous marriage was recorded in 51.5% of our cases with autosomal dominant diseases and in 31% of cases with X linked diseases, all cases of mental retardation (100%) and in 92.6% of patients with limb anomalies (P < 0.001). Stillbirths, child deaths and recurrent abortions were significantly increased among consanguineous parents (80.6%, 80%, 67%) respectively than among non consanguineous parents. In conclusion, consanguineous marriage is significantly higher in many genetic diseases which suggests that couples may have deleterious lethal genes, inherited from common ancestor and when transmitted to their offsprings, they can lead to prenatal, neonatal, child morbidity or mortality. So public health education and genetic counseling are highly recommended in our community.Keywords: Consanguinity; Chromosomal abnormality; Genetic counseling; Child death; HomozygosityThe Egyptian Journal of Medical Human Genetics (2013) 14, 157–16

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

AbstractWe report a 4month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachnodactly of both fingers and toes, flexion of thumbs at metacarpophalengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5months with bronchopneumonia and gastroenteritis

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

AbstractWe report a 4.5year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8(q23.3-q24.1)