J P del Rincón

Publications of J P del Rincón

• Contribution of chromosome 1q21-q23 to familial combined hyperlipidemia in Mexican families.

  Authors: A Huertas-Vázquez, J P del Rincón, S Canizales-Quinteros, L Riba, G Vega-Hernández, S Ramírez-Jiménez, M Aurón-Gómez, F J Gómez-Pérez, C A Aguilar-Salinas, M T Tusié-Luna

  Annals of human genetics. 10/2004; 68(Pt 5):419-27.

  Familial combined hyperlipidemia (FCHL) is the most common familial dyslipidemia, with a prevalence of 1-2% in the general population. A major locus for FCHL has been mapped to chromosome 1q21-q23 inFamilial combined hyperlipidemia (FCHL) is the most common familial dyslipidemia, with a prevalence of 1-2% in the general population. A major locus for FCHL has been mapped to chromosome 1q21-q23 in Finnish, Chinese, German and US families. We studied seven extended Mexican families with 153 members, including 64 affected subjects. A total of 11 markers were genotyped, including D1S104 which has been linked to FCHL in other studies. Two point linkage analysis for the FCHL phenotype, and for the elevated triglyceride (TG) trait, allowing for heterogeneity, gave a maximum HLOD of 1.67 (alpha = 0.49) and 1.93 (alpha = 0.43) at D1S2768 (2.69 cM proximal to D1S104) respectively. Heterogeneity and non-parametric (NPL) multipoint analyses for the FCHL phenotype and the TG trait showed maximum HLODs of 1.27 (alpha = 0.46) and 1.64 (alpha = 0.38), and NPLs of 4.00 (P = 0.0001) and 3.68 (P = 0.0003) near D1S2768, respectively. In addition, analysis of four candidate genes putatively involved in the expression of FCHL showed no evidence of linkage for the LCAT gene or the APOA1/C3/A4/A5 gene cluster. However, we cannot exclude the participation of these genes, or the LIPC and LPL genes, as minor susceptibility loci in the expression of FCHL, or the TG or elevated total cholesterol (TC) traits in our families. In conclusion, our data confirm the involvement of a major susceptibility locus on chromosome 1q21-q23 in FCHL Mexican families, consistent with findings in other populations.

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• A false-positive diagnosis of C-cell hyperplasia in a member of a family with multiple endocrine neoplasia type 2A and familial colonic polyposis.

  Authors: J Gallegos-Martínez, M F Herrera, J P del Rincón, R A Decker, A Angeles-Angeles, O González, J A Rull

  Surgery. 06/1998; 123(5):587-8.

• Hypopituitarism in two brothers born by breech delivery.

  Authors: J P del Rincón, I Lerman, J Vázquez-Lamadrid, F J Gómez-Pérez, J Granados, J J Morales, O Mutchinick

  Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 5(3):143-7.

  OBJECTIVE: To describe two brothers with hypopituitarism who had been born by breech delivery and to discuss whether this condition corresponds to a familial form or to a pituitary stalk section as aOBJECTIVE: To describe two brothers with hypopituitarism who had been born by breech delivery and to discuss whether this condition corresponds to a familial form or to a pituitary stalk section as a result of the breech delivery. METHODS: We present the clinical, biochemical, and magnetic resonance imaging (MRI) characteristics of two Mexican brothers, 19 and 21 years old, with hypopituitarism and a history of breech delivery. RESULTS: Physical examination of both patients showed short stature with normal body proportions, an obviously younger appearance than that expected for their chronologic age, high-pitched voice, irregularly positioned teeth, no axillary or pubic hair, and prepubertal genitalia. Biochemical testing showed low thyroxine and free thyroxine values with inadequate or normal thyrotropin, low basal testosterone, and mildly increased serum prolactin levels. Stimulation tests showed a normal and a delayed thyrotropin response to thyrotropin-releasing hormone, subnormal serum cortisol, considerably blunted growth hormone (GH) response to insulin-induced hypoglycemia, and absence of GH response to GH-releasing hormone in both cases. MRI showed an ectopic neuropituitary gland. In case 1, a caudal portion of a very thin pituitary stalk was observed, suggesting the preservation of a vascular component of the stalk. Because both parents of these brothers shared the major histocompatibility complex haplotype HLA-A*2301, B*3501, DRB1*0407, DQA1*03, DQB1*0201, consanguinity was suggested. CONCLUSION: The phenotype of these patients differs from that described in families with POU1F1 (Pit-1) and PROP1 mutations. These cases are most likely related to an autosomal recessive gene mutation that warrants further research. To our knowledge, this is the first report of hypopituitarism in two brothers born by breech delivery.