Re: Curriano's triad?answer with more details
From: Rafael Haciski MD (haciski@earthlink.net)
Wed Jul 3 01:36:59 2002
Many thanks for that find!
I must admit I have not used "google" in the past, time to try it.
Also the spelling seems variable: Curriano's vs Currarino's
--
Rafael Haciski, MD FACOG
Baltimore, MD
> From: "Emilio Porro" <sanbonav@hotmail.com>
> Reply-To: ob-gyn-l@obgyn.net
> Date: Mon, 1 Jul 2002 06:28:26 -0500
> To: Multiple recipients of list OB-GYN-L <ob-gyn-l@mail.medispecialty.com>
> Subject: Curriano's triad?answer with more details
>
> I have found more details
> always with http://www.google.com
> Yours faithfully
> Emilio Porro
> ObGyn MD
> Como Italy
> http://www.sanbonaventura.com
>
> Molecular genetics and cell biology of inherited disease
>
> Characterisation of the causative gene for Currarino Syndrome
>
> Dr S Lindsay
>
> s.lindsay@newcastle.ac.uk
>
> Dr SA Lynch
>
> s.a.lynch@newcastle.ac.uk
>
> Professor T Strachan
>
> tom.strachan@newcastle.ac.uk
>
> We mapped the gene for a form of dominantly inherited sacral agenesis
> (Currarino Syndrome) to the long arm of chromosome 7 and have recently
> identified the causative gene, HLXB9 (1,2). Currarino Syndrome is a form of
> neural tube defect which affects caudal development, primarily the sacrum
> and hindgut. We have carried out an extensive mutation analysis of this gene
> in familial and sporadic Currarino Triad and related disorders as well as
> characterising its expression during human development (3). We are now
> carrying out studies aimed at analysing its regulation with the long-term
> goals of determining its function and understanding its role in normal
> development as well as the mechanisms underlying its involvement in the
> Currarino Syndrome disease phenotype.
>
> 1.. Lynch S, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E,
> Burn J and Strachan T (1995) A gene for autosomal dominant sacral agenesis
> maps to the holoprosencephaly region at 7q36. Nature Genet. 11: 93-95.
>
> 2.. Ross A, Ruiz Perez V, Wang Y, Hagan DM, Scherer S, Lynch S, Custard E
> et al (1998) A homeobox gene, HLXB9, is the major locus for dominantly
> inherited sacral agenesis. Nature Genet 20: 358-361.
>
> 3.. Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM,
> Scambler P et al (2000) Mutation analysis and embryonic expression of the
> HLXB9 Currarino syndrome gene. Am. J. Hum. Genet. 66: 1504-1515.
>
>> ----- Original Message -----
> From: "Rafael Haciski MD" <haciski@earthlink.net>
> To: "Multiple recipients of list OB-GYN-L" <ob-gyn-l@mail.medispecialty.com>
> Sent: Monday, July 01, 2002 6:56 AM
> Subject: Information: Curriano's triad?
>
>> I was called by a colleague for GYN management ideas in a patient with
>> "Curriano's triad." I do not have any details yet about this patient's
>> particular problems, but reaching into my memory for this "tirad", I came
> up
>> with cobwebs only.
>>
>> Following a failed initial search, I thought I'd tap the cumulative
>> brainpower of the the list members for some info about this congenital
>> condition.
>>
>> Thanks in advance for any feedback here or by direct e-mail.
>>
>> Rafael Haciski, MD
>> Baltimore, Md.
>> haciski@IVF-MD.com
>>
