Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

نویسندگان

  • A A Bergen
  • P Kestelyn
  • M Leys
  • F Meire
چکیده

The gene for complete congenital stationary night blindness (CSNB1) has been assigned to the Xp11.3 region. However, little evidence has been provided for the assignment of the incomplete congenital stationary night blindness gene (CSNB2). Here we present the clinical and molecular data from a CSNB2 family which show a key recombinant assigning the CSNB2 gene proximal to MAOB.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Aland island eye disease: clinical and electrophysiological studies of a Welsh family.

Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with manifestation in some female carriers. In this family, affected males demonstrate myopia, but a high proportion of female carriers, and some of the possibly affected males, show hypermetropia. Clinical o...

متن کامل

Lambert-Eaton myasthenic syndrome, incomplete X-linked congenital stationary night blindness, X-linked cone-rod dystrophy, hypokalemic periodic paralysis, malignant hyperthermia susceptibility, Timothy syndrome, idiopathic generalized epilepsy, autism spectrum disorders, lethargic, ducky, stargazin

Since the initial identification of native calcium currents, significant progress has been made towards our understanding of the molecular and cellular contributions of voltage-gated calcium channels in multiple physiological processes. Moreover, we are beginning to comprehend their pathophysiological roles through both naturally occurring channelopathies in humans and mice and through targeted...

متن کامل

Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness.

Ten patients with the incomplete type of congenital stationary night blindness (CSNB) were examined with a 30 Hz flicker electroretinogram (ERG). After 30 min of dark adaptation, 30 Hz flicker ERG was recorded continuously for 12-15 min under white background illumination. All patients showed an exaggerated increase of amplitude and a universal characteristic change of wave shape as the light a...

متن کامل

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.

PURPOSE Proximal Xp harbors many inherited retinal disorders, including retinitis pigmentosa (RP) and congenital stationary night blindness, both of which display genetic heterogeneity. X-linked congenital stationary night blindness (CSNBX) is a nonprogressive disease causing night blindness and reduced visual acuity. Distinct genetic loci have been reported for CSNBX at Xp21.1, which is potent...

متن کامل

Congenital Stationary Night Blindness Panel

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 31 7  شماره 

صفحات  -

تاریخ انتشار 1994