Nail-patella syndrome and its association with glaucoma: a review of eight families.

Nail-patella syndrome and its association with glaucoma: a review of eight families. Research Abstract Details 

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Nail-patella syndrome and its association with glaucoma: a review of eight families. Abstract Text:

Z Mimiwati,D A Mackey,J E Craig,J R Mackinnon,J L Rait,J E Liebelt,R Ayala-Lugo,D Vollrath,J E Richards,

BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS. AIMS: To investigate the association of glaucoma with NPS in Australian families and to determine how common NPS is in Australia. METHODS: One family with NPS and glaucoma was identified from the Glaucoma Inheritance Study in Tasmania. A further 18 index cases of NPS were identified from the genetics database for southeastern Australia. Eight of these pedigrees were available for comprehensive glaucoma examination on available family members. DNA was sequenced for mutations in LMX1B. RESULTS: In total, 52 living cases of NPS were identified suggesting a minimum prevalence of at least 1 in 100 000. 32 subjects from eight NPS pedigrees (four familial and four sporadic cases) were examined. 14 subjects had NPS alone. 4 subjects had NPS and glaucoma or ocular hypertension. Five pedigrees with NPS had a reported family history of glaucoma, although some of these people with glaucoma did not have NPS. LMX1B mutations were identified in 5 of the 8 index cases-three sporadic and two familial. Two of the six (33%) participants over 40 years of age had developed glaucoma, showing increased risk of glaucoma in NPS. CONCLUSION: Patients with NPS should be examined regularly for glaucoma. However, because the families with NPS are ascertained primarily from young probands or probands who are isolated cases, the exact level of risk is unclear.

Nail-patella syndrome and its association with glaucoma: a review of eight families. Publishing Authors By Initials

Z Mimiwati,DA Mackey,JE Craig,JR Mackinnon,JL Rait,JE Liebelt,R Ayala-Lugo,D Vollrath,JE Richards,

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

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Nail-patella syndrome and its association with glaucoma: a review of eight families. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The British journal of ophthalmology

VOLUME: 90

Page Numbers: 1505-9

Journal Abbreviation:

ISSN: 0007-1161

DAY: 6

MONTH: 07

YEAR: 2006

Nail-patella syndrome and its association with glaucoma: a review of eight families. Information

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LANGUAGE: eng

NlmUniqueID: 421041

Nail-patella syndrome and its association with glaucoma: a review of eight families. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

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Substance Name: Transcription Factors

Registry Number: 0

Grant and Affiliation Information for Nail-patella syndrome and its association with glaucoma: a review of eight families.

AFFILIATION: Department of Ophthalmology, Eye Research, University of Melbourne, Victoria 3002, Australia.

Country: England

AGENCY: United States NEI

GRANT: EY11671

ACRONYM: EY

MEDLINETA: Br J Ophthalmol

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