Potter Patrick Brophy Research Lab – Mutational Analysis

Bilateral Renal Agenesis (Potter Sequence/Syndrome)
Primary Researcher: Jason Clarke
email Jason Clarke [click here]

Bilateral Renal Agenesis (BRA) is a lethal birth defect that is hypothesized to be a part of a developmental continuum that ranges from mild renal dysplasia or hypoplasia to complete renal agenesis. BRA is perhaps the most extreme phenotypic variation of this continuum and is categorized under the heading of Hereditary Renal/Urogenital Adysplasia [OMIM 191830]. BRA has been estimated to occur at a frequency of 1:4000 – 1:10,000 births (1,2). However, it is expected that these frequencies will increase as more rigid standards of detecting and reporting this birth defect are enacted. Hereditary Renal/Urogenital Adysplasia is believed to be autosomal dominant in nature with incomplete penetrance and variable expressivity.

To date, genetic lesions associated with BRA have not been identified. However, our laboratory is currently enrolling qualified participant families for the identification and mutational analysis of genetic lesions associated with BRA (Potter Sequence/Syndrome).

To assist our analysis, we ask that clinicians notify us about a candidate family prior to enrolling them into the study. It is important that the mother and father of the affected infant also participate in the study, as well as all unaffected siblings. Nuclear families of particular interest may be asked to enroll extended family members.

Furthermore, we support the recommendation of Roodhooft et al. (1984)(3) that parents and siblings of infants born with agenesis or dysgenesis of the kidneys also be ultrasonigraphically screened for the presence of both kidneys and urogenital structural abnormalities.

To view a synopsis regarding Potter Syndrome that we have written for the National Potter Syndrome Support Group, with medical definitions, click here.

Consent Form & Health Questionnaire (English)
Child Assent (English)Consent Form & Health Questionnaire (En Español)Child Assent (En Español)

Consent Form & Health Questionnaire (Em Português)
Child Assent (Em Português)

NOTE: If you are enrolling a minor under the age of 18 years old you need to complete & sign the Consent Form for them. If the minor you are enrolling is aged 7 to 17 years old, you need to have them (the minor) read or have read to them the Child Assent form, and have them sign it.


1. Potter EL. Bilateral Absence of Ureters and Kidneys: A report of 50 cases. Obstet Gynecol. 1965 Jan;25:3-12. PMID: 14242547

2. Wilson RD and Baird PA.Renal agenesis in British Columbia. Am J Med Genet. 1985 May;21(1):153-69.
PMID: 4003440

 Roodhooft AM, Birnholz JC, Holmes LB. Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med. 1984 May 24;310(21):1341-5. PMID: 6717505

Jason’s Bibliography:
1. Clarke JC , Patel SR, Raymond RM Jr., Andrew S, Robinson BG, Dressler GR, Brophy PD . Regulation of c-Ret in the developing kidney is responsive to Pax2 gene dosage. Hum Mol Genet. 2006: 15 (23): 3420-3428.2. Clarke JC , Honey EM, Bekker E, Snyman LC, Raymond RM Jr, Lord C, Brophy PD . A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred . Clin Genet 2006: 70 (1): 63-67.

3. Clarke J , Honey EM, Raymond RM Jr, Lord C, Brophy PD . Identification of a novel nonsense mutation in the EYA1 gene associated with branchiootic/branchio-oto-renal syndrome . Pediatr Res. 2005 Oct;58(4):819.

4. Brophy PD , Clarke J , Raymond RM Jr. Identifying the mouse gene responsible for congenital progressive hydronephrosis (Cph) . Pediatr Res. 2005 Oct;58(4):817.

5. Clarke JC. Potter Syndrome. Wikipedia online Encyclopedia. 2005 June 4. http://en.wikipedia.org/wiki/Potter_Syndrome .

6. Clarke JC. Potter Syndrome FAQ’s. National Potter’s Syndrome Support Group. 2005 Feb 15. http://www.potterssyndrome.org /pottersfaqs.html .

7. Clarke JC. Potter Syndrome. National Potter’s Syndrome Support Group. 2003 Nov 5. https://www.kidneygenes.com/Potter%20Synopsis.doc .