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Leal Lab

Houston, Texas

The Cullen Building at Baylor College of Medicine.
Molecular and Human Genetics - Center for Statistical Genetics
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Regie Lyn Santos-Cortez

Regie Lyn Santos Cortez

Research Interests

I am interested in the genetic epidemiology of complex traits, particularly otorhinolaryngologic diseases, e.g. hearing impairment, otitis media and head and neck cancers. My previous experience includes performing linkage analysis in families with non-syndromic hearing impairment, heritability analysis for fasting plasma glucose in a genetic isolate, and association analysis for candidate genes for non-syndromic hearing impairment and various cancer sites, such as oral cavity, breast, colon and lung cancers. I have been performing linkage analysis for Dr. Leal’s projects on nonsyndromic hearing impairment, keloids and thoracic aortic aneurysms. Additionally, we are currently studying the genetics of otitis media in an indigenous community in the Philippines, and are in the process of collecting samples for study. Our studies on non-syndromic hearing impairment and otitis media involve gene mapping and identification using linkage analysis and exome sequencing.

Education

  • B.S. Basic Medical Sciences, University of the Philippines (UP) Manila
  • M.D., UP Manila College of Medicine
  • Residency in Otorhinolaryngology, UP-Philippine General Hospital
  • M.Sc. in Genetic Epidemiology, Erasmus Medical Centre (MC) Rotterdam, Netherlands Institute for Health Sciences (NIHES)
  • D.Sc. in Genetic Epidemiology, Erasmus MC Rotterdam, NIHES
  • Ph.D. in Genetic Epidemiology, Erasmus University Rotterdam

Publications

  • Santos-Cortez RLP, Lee K, Azeem Z, Antonellis PK, Pollock LM, Khan S, Irfanullah, Andrade PB, Chiu I, Adams MD, Basit S, Smith JD, University of Washington Center for Mendelian Genomics, Nickerson DA, McDermott BM Jr., Ahmad W, Leal SM (2013) Mutations in KARS encoding lysyl-tRNA synthetase, cause autosomal recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93 (Epub ahead of print]
  • Santos-Cortez RLP, Leal SM (2013) Nonsyndromic hearing impairment: the utility of families for the identification of hearing impairment genes, variants and phenotypes. In: Riazuddin S, Ahmed Z, eds. Inner ear development and hearing loss. New York: Nova Science Publishers Inc., 2013
  • Chiong CM, Cutiongco-de la Paz EM, Reyes-Quintos MRT, Tobias CAM, Hernandez K, Santos-Cortez RLP (2013) GJB2 variants and auditory outcomes among Filipino cochlear implantees. Audiol Neurotol Extra 3:1-8.
  • Lee K, Chiu I, Santos-Cortez RLP, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM (2012) Novel OTOA mutations cause autosomal recessive nonsyndromic hearing impairment in Pakistani families. Clin Genet. Nov 23 [Epub ahead of print]
  • Lee K, Ansar M, Andrade PB, Santos-Cortez RLP, Ahmad W, Leal SM (2012) Novel CLDN14 mutations in Pakistani families with autosomal recessive nonsyndromic hearing impairment. Am J Med Genet. 158A:315-321.
  • Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash S, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RLP, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rider MJ,Vahanian A, Nickerson DA, Michel JB, NHLBI GO Exome Sequencing Project, Jondeau G, Milewicz DM (2012) TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome. Nat Genet. 44:916-921
  • Lee K, Khan S, Islam A, Ansar M, Chen L, Kim S, Santos-Cortez RLP, Ahmad W, Leal SM (2012) Novel TMPRSS3 variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment. Clin Genet. 82:56-63
  • Basit S, Lee K, Habib R, Chen L, Kalsoom U, Santos-Cortez, Azeem Z, Andrade, P, Ansar M, Ahmad W, Leal SM (2011) DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23-2. Hum Genet. 129:379-385
  • Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RLP, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM (2011) Novel autosomal recessive non-syndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3. Hum Hered. 71:106-112
  • Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RLP, Ahmad W, Leal SM (2011) A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. J Hum Genet. 56:866-888
  • Regalado ES, Gong L, Villamizar C, Guo D, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertolli-Avella AM, Shendure J, Rieder MJ, Nickerson DA, NHLBI GO Exome Sequencing Project, Milewicz DM (2011) Exome sequencing identifies SMAD3 mutations causing familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 109:680-686
  • Lee K, Amin ud Din M, Ansar M, Chen L, Santos-Cortez RLP, Ahmad W, Leal SM (2011) Autosomal recessive nonsyndromic hearing impairment due to a novel deletion in the RDX gene. Genet Res International. Article ID 294675, 5 pages
  • Lee K, Khan S, Ansar M, Santos-Cortez R, Ahmad W, Leal SM (2011) A novel ESRRB deletion is a rare cause of autosomal recessive nonsyndromic hearing impairment. Genet Res International, Article ID 368915, 4 pages
  • Ngelangel CA, Javelosa MAU, Cutiongco-de la Paz EM, Padilla C, Silao CL, Santos-Cortez RL, The Philippine Cancer Genetics Study Group (2009) Epidemiological risk factors for cancers of the lung, breast, colon-rectum & oral cavity: a case-control study in the Philippines. Acta Medica Philippina 43:29-34.
  • Reyes-Quintos R, Santos-Cortez RLP, Tantoco MLC, Roldan RA, Fellizar KR, Dalizay-Cruz MAM, Abes GT, Chiong CM (2007) Otoscopic and audiologic findings in an Ati community in Boracay. Philipp J Otolaryngol Head Neck Surg. 22:19-21.
  • Santos-Cortez RLP, Chiong CM, San Agustin MLM, Elgar CMC, Gimena GLM, Ibrahim SC, Roldan RA, Reyes-Quintos MRT, Chan AL, Abes GT (2007) The Philippine National Ear Institute: Patient and audiologic profiles. Philipp J Otolaryngol Head Neck Surg. 22:12-8.
  • Santos RLP, Häfner FM, Huygen PLM, Linder TE, Schinzel AA, Spillmann T, Leal SM (2006) Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiol Neurotol.11:269-275.
  • Santos RLP, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE, Chahrour MH, Yan K, Ahmad W, Leal SM (2006) DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum Genet.120:85-92.
  • Ali G, Santos RLP, John P, Wambangco MAL, Lee K, Ahmad W, Leal SM (2006) The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23. Clin Genet. 69:429-433.
  • Tariq A, Santos RLP, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM (2006) Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32. J Mol Med. 84:484-490.
  • Santos RLP, Zillikens MC, Rivadeneira FR, Pols HAP, Oostra BA, van Duijn CM, Aulchenko YS (2006) Heritability of fasting glucose levels in a young genetically isolated population. Diabetologia. 49:667-672.
  • Santos RLP, El-Shanti H, Sikandar S, Bhatti A, Yan K, Chahrour MH, Lee K, Mahasneh AA, McArthur N, Pham TL, Ahmad W, Leal SM (2006) Novel sequence variants in the TMIE gene in families with autosomal recessive non-syndromic hearing impairment. J Mol Med. 84:226-231.
  • Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM (2006) A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Hum Genet.118:605-610.
  • Santos RLP, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM (2005) Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat. 26:396.
  • Irshad S, Santos RLP, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM (2005) Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2. Clin Genet. 68:262-267.
  • Santos RL, Aulchenko YS, Huygen PL, van der Donk KP, de Wijs IJ, Kemperman MH, Admiraal RJ, Kremer H, Hoefsloot LH, Cremers CW (2005) Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol. 69:165-174.
  • Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Santos RP, Yan K, Ahmad W, Leal SM (2005) A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. Am J Med Genet A. 133:18-22.
  • Santos RLP, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM (2005) Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet. 67:61-68.
  • Chiong CM, Santos RLP (1999) Recurrent meningitis and cerebrospinal otorhinorrhea in a pediatric patient with inner ear dysplasia. Philipp J Otolaryngol Head Neck Surg. 14:33-39.

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