The aims of this study are: (1) to determine the frequencies of the various genetic forms of retinitis pigmentosa; and (2) to perform segregation analysis on autosomal dominant, autosomal recessive, and X-linked families. The families studied consisted of 2 series of patients at Moorfields Eye Hospital: (1) 426 families seen in the Genetic Clinic; and (2) 289 families seen in the Electrodiagnos...

Congenital stationary night-blindness associated with myopia may be transmitted by two types of inheritance: X-linked recessive (Worth, 1906; Nettleship, 1909 and 1912; Kleiner, 1923) and autosomal recessive (Nettleship, 1912; Vogt, 1923; Gassler, 1925; Akiya, 1935; Merin et al, 1970). There are only a few reports of either variety. The present paper describes a family where 3 sibs are affected...

x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...

Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is estimated to affect at least one in 17000 people worldwide. We report a rare case of HED in a 14-year-old male child patient which extraorally manifested as alopecia, scanty eyebrow and eye lashes, frontal bossing, depressed nasal bridge, and full ...

OBJECTIVE To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN Case report. SETTING University medical center. PATIENT(S) Two Chinese siblings. INTERVENTION(S) Clinical evaluation, hormone assays, and gene mutation research. MAIN OUTCOME MEASURE(S) Endocrinologic evaluation and genetic anal...

BACKGROUND Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant inheritance pattern. OBJECTIVE To classify cortical malformation syndromes associated with PH. METHODS Ana...

Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A). The first case of Fabry disease in Slovenia was diagnosed in 1991. This 46 year-old male was referred for dermatologic evaluation of a purpura on his abdomen. He was being treated for proteinuria and cardiac symptoms. The diagnosis o...

BACKGROUND X-linked recessive hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a rare genodermatosis characterized clinically by developmental abnormalities affecting the teeth, hair and sweat glands. Mutations in the EDA-A1 gene have been associated with XLHED. Recently, mutations in the EDA-A1 gene have also been implicated in isolated X-linked recessive hypodontia (XLRH; OMIM 313500...

ARLY investigators in radiation genetics claimed that X-rays of different wave E lengths, gamma rays, and beta particles of radium were equally effective in inducing sex-linked recessive mutations in Drosophila melanogaster and that densely ionizing radiations such as recoil protons from neutrons and alpha particles were less efficient than the less densely ionizing X, gamma, and beta radiation...